rs61752129, PEX26

N. diseases: 14
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Peroxisome biogenesis disorders
CUI: C1832200
Disease: Peroxisome biogenesis disorders
38 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 1.000 3 2003 2010
PEROXISOME BIOGENESIS DISORDER 7B
CUI: C3553951
Disease: PEROXISOME BIOGENESIS DISORDER 7B
5 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 1.000 2 2003 2006
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
3 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 1.000 2 2003 2006
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
Foramen Ovale, Patent
CUI: C0016522
Disease: Foramen Ovale, Patent
14 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
Inspiratory stridor
CUI: C0677600
Disease: Inspiratory stridor
2 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
Lissencephaly
CUI: C0266463
Disease: Lissencephaly
9 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
CUI: C3888385
Disease: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
7 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
Redundant neck skin
CUI: C1840319
Disease: Redundant neck skin
3 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0